Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

(2016) James R. Priest et al.   PLoS Genetics

Human Disease Modeling Reveals Integrated Transcriptional and Epigenetic Mechanisms of NOTCH1 Haploinsufficiency

(2015) Christina V. Theodoris et al.   CELL

RecessiveMYH6Mutations in Hypoplastic Left Heart With Reduced Ejection FractionCLINICAL PERSPECTIVE

(2015) Jeanne L. Theis et al.   Circulation-Cardiovascular Genetics

Endocardial Brg1 disruption illustrates the developmental origins of semilunar valve disease

(2015) Brynn N. Akerberg et al.   DEVELOPMENTAL BIOLOGY

Sequential Notch activation regulates ventricular chamber development

(2015) Gaetano D’Amato et al.   NATURE CELL BIOLOGY

Structural basis for Notch1 engagement of Delta-like 4

(2015) V. C. Luca et al.   SCIENCE

RecessiveMYH6Mutations in Hypoplastic Left Heart With Reduced Ejection FractionCLINICAL PERSPECTIVE

(2015) Jeanne L. Theis et al.   Circulation-Cardiovascular Genetics

The Molecular Signatures Database Hallmark Gene Set Collection

(2015) Arthur Liberzon et al.   Cell Systems

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

(2014) Anna-Barbara Stittrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FLAGS, frequently mutated genes in public exomes

(2014) Casper Shyr et al.   BMC Medical Genomics

A Roadmap to Investigate the Genetic Basis of Bicuspid Aortic Valve and its Complications

(2014) Siddharth K. Prakash et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Of mice and men: molecular genetics of congenital heart disease

(2013) Troels Askhøj Andersen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Genetics of Congenital Heart Disease

(2013) Akl C. Fahed et al.   CIRCULATION RESEARCH

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

(2012) Michael J. Bamshad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

(2012) M. Silberstein et al.   BIOINFORMATICS

Epithelial-to-Mesenchymal and Endothelial-to-Mesenchymal Transition

(2012) Jason C. Kovacic et al.   CIRCULATION

Exome Analysis of a Family With Pleiotropic Congenital Heart Disease

(2012) Cammon B. Arrington et al.   Circulation-Cardiovascular Genetics

Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndrome

(2012) J. J. Hofmann et al.   DEVELOPMENT

Detecting false-positive signals in exome sequencing

(2012) Karin V. Fuentes Fajardo et al.   HUMAN MUTATION

Notch signaling in human development and disease

(2012) Andrea L. Penton et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

(2011) Laura Southgate et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular signatures database (MSigDB) 3.0

(2011) A. Liberzon et al.   BIOINFORMATICS

Jarid2 (Jumonji, AT Rich Interactive Domain 2) RegulatesNOTCH1Expression via Histone Modification in the Developing Heart

(2011) Matthew R. Mysliwiec et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Endothelial Jarid2/Jumonji Is Required for Normal Cardiac Development and Proper Notch1 Expression

(2011) Matthew R. Mysliwiec et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of Gata5 in mice leads to bicuspid aortic valve

(2011) Brigitte Laforest et al.   JOURNAL OF CLINICAL INVESTIGATION

Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

(2011) Javier T. Granados-Riveron et al.   Congenital Heart Disease

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis

(2009) Catrin Rutland et al.   JOURNAL OF ANATOMY

Notch Signaling in Cardiac Development

(2008) Kyle Niessen et al.   CIRCULATION RESEARCH

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

(2008) K. L. McBride et al.   HUMAN MOLECULAR GENETICS

The multifaceted role of Notch in cardiac development and disease

(2007) Frances A. High et al.   NATURE REVIEWS GENETICS